Open AccessA child of congenital muscular dystrophy-dystroglycanopathy with homozygous missense variation in exon 3 of the ISPD Gene: A rare case from Odisha
Author(s) -
Sasmita Biswal,
Debasish Panigrahi,
Nirmal Kumar Mohakud,
Manoj Kumar,
Natabara Swain
Publication year - 2020
Publication title -
advanced biomedical research
Language(s) - English
Resource type - Journals
ISSN - 2277-9175
DOI - 10.4103/abr.abr_141_19
Subject(s) - missense mutation , exon , muscular dystrophy , gene , genetics , medicine , congenital muscular dystrophy , mutation , biology